Mutations in p53 and Heritable Breast Cancer
Author Information
Author(s): J. Prosser, P.A. Elder, A. Condie, I. MacFadyen, C.M. Steel, H.J. Evans
Primary Institution: MRC Human Genetics Unit, Western General Hospital
Hypothesis
Could a mutation in one allele of the p53 gene be an inherited predisposing component in families showing a high incidence of breast cancer?
Conclusion
In these five families, structural abnormalities of the p53 gene do not contribute to the inherited propensity to develop breast cancer.
Supporting Evidence
- Eight out of 60 sporadic breast tumours contained a mutation in p53.
- More than 60% of breast cancer patients show loss of heterozygosity for markers in the 17p region.
- None of the eight breast cancer patients with detected p53 mutations had a positive family history of the disease.
Takeaway
The study looked at families with a lot of breast cancer to see if a specific gene mutation was passed down, but they didn't find any.
Methodology
DNA from blood or blood-derived lymphoblastoid cell lines from ten patients was examined for mutations in the p53 gene using PCR amplification and mismatch techniques.
Limitations
The study only focused on part of the p53 gene and did not find mutations in the examined individuals.
Participant Demographics
Five extended families with a high incidence of breast cancer.
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